Case# Patient 13, Female, 1yo diagnosis

Variant NM_000320.2:c.529G>A (p.Y150C)

CAID CA2868077

gnomAD 0.0001831 (Other?)

Case# Patient 5, Female, 4.5mo

Variant NM_000320.2:c.133A>G (p.G18D)

CAID CA356453446

Case# Patient 12, Male, Turkish, 6yo diagnosis

CasePresentingHPOs HP:0004923

CasePreviousTesting screened for BH4 deficiency using dried blood and urine spots, Final di-agnosis was made by measurements of neurotransmitter and pterinmetabolites in cerebrospinal fluid (CSF) and urine, in addition toDHPR enzyme activity, which was assessed in whole red bloodcells

CaseMethod1 PCR

CaseMethod2 DGGE

Variant NM_000320.2:c.371delC(p.S97fs)

CAID CA658795310

VariantEvidence frameshift

Case# Patient 11, Female, 5mo diagnosis

Variant NM_000320.2(QDPR):c.185+3delinsAC (p.W35fs)

CAID CA658795310

VariantEvidence frameshift

Case# Patient 17, Female, Turkish, 2mo diagnosis

CasePresentingHPOs HP:0004923

CasePreviousTesting screened for BH4 deficiency using dried blood and urine spots, Final di-agnosis was made by measurements of neurotransmitter and pterinmetabolites in cerebrospinal fluid (CSF) and urine, in addition toDHPR enzyme activity, which was assessed in whole red bloodcells

CaseMethod1 PCR

CaseMethod2 DGGE

Variant NM_000320.2:c.741A>T(p.R221Ter)

CAID CA658795309

VariantEvidence null

Case# Patient 6, Female, 8mo diagnosis

Variant NM_000320.2:c.148G>A (p.G23D)

CAID CA2868208

gnomAD 0.001332 (African)

Case# Patient 10, Turkish, Male, 1mo diagnosis

CasePresentingHPOs HP:0004923

CasePreviousTesting screened for BH4 deficiency using dried blood and urine spots, Final di-agnosis was made by measurements of neurotransmitter and pterinmetabolites in cerebrospinal fluid (CSF) and urine, in addition toDHPR enzyme activity, which was assessed in whole red bloodcells

CaseMethod1 PCR

CaseMethod2 DGGE

Variant NM_000320.2:c.350T>A(p.W90Ter)

CAID CA356448578

VariantEvidence null

Case# Patient 2, Male, 17mo diagnosis

Variant NM_000320.2:c.129G>C (p.G17R)

CAID CA438715605

Case# Patient 1, Male, 40do diagnosis

Variant NM_000320.2:c.525A>G (p.G149R)

CAID CA438712209

Case# Patient 16, Female, 2mo diagnosis

Variant NM_000320.2:c.277G>A (p.Gly93Ser)

CAID CA356450231

Case# P1, Male, Chinese, 5 months

CasePresentingHPOs HP:0006986, HP:0002373, HP:0008947, HP:0001249

CaseMethod1 PCR

CaseGenotypingMethod PCR of sevon exons of QDPR gene

Variant NM_000320.2:c.661C>T(p.R221X), NM_000320.2:c.515C>T(p.P172L)

CAID CA2868005, CA2868085

gnomAD (Latino) 0.00002978, (Ashkenazi Jewish) 0.0001019

VariantEvidence null

CasePMIDs 19099731

Case# Patient 1, Female, Japanese, 2 yo diagnosis

CasePresentingHPOs HP:0004923

CasePreviousTesting measuring urinarypteridines and assaying for DHPR activity. The DHPR activity inred blood cells was 6–8% of normal control

CaseMethod1 RG-PCR

Variant NM_000320.2(QDPR):c.106T>C (p.Trp36Arg)

ClinVar 492

VariantEvidence sevenfold higher DHPR activity in WT tranfected fibroblasts than W36T transfected cells(Fig. 1).

Case# Patient 2, male, Japanese, 11 yo diagnosis

CasePresentingHPOs HP:0002521, HP:0004923

CaseMethod1 RG-PCR

Variant NM_000320.2:c.461A>G

CAID CA356444851

VariantEvidence intronic splice variant (Fig. 4)

CaseAddInfo consanguineous parents, mother was heterozygous, patient and 2 brothers are homozygous

CasePMIDs 7444937

Case# KA, Lebanese

CasePresentingHPOs HP:0004923

CaseMethod1 PCR

CaseGenotypingMethod PCR of entire DHPR coding sequence

Variant NM_000320.2(QDPR):c.390_391insACT

CAID CA658795205

CaseAddInfo consanguineous parents

Case# P1, Pakistan,

CasePresentingHPOs reduced DHPR activity

CaseMethod1 PCR

CaseGenotypingMethod PCR

Variant NM_000320.2:c.570del

CAID CA658795210

VariantEvidence null